HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52519901A>C , CM000674.2:g.52519901A>C | GRCh38 |
NC_000012.11:g.52913685A>C , CM000674.1:g.52913685A>C | GRCh37 |
NC_000012.10:g.51199952A>C | NCBI36 |
NG_008297.1:g.5559T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252242.9:c.396T>G MANE Select | ENSP00000252242.4:p.Phe132Leu | |
ENST00000252242.8:c.396T>G | ENSP00000252242.4:p.Phe132Leu | |
ENST00000546577.1:c.396T>G | ENSP00000449651.1:p.Phe132Leu | |
ENST00000549420.1:c.66T>G | ENSP00000447209.1:p.Phe22Leu | |
ENST00000551275.1:c.291T>G | ENSP00000448041.1:p.Phe97Leu | |
ENST00000552629.5:n.494T>G | ||
NM_000424.3:c.396T>G | NP_000415.2:p.Phe132Leu | |
NM_000424.4:c.396T>G MANE Select | NP_000415.2:p.Phe132Leu |